Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12297820
rs12297820
0.925 0.080 12 48047965 intron variant G/A snv 7.2E-02 9.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2016 2016
dbSNP: rs12297820
rs12297820
0.925 0.080 12 48047965 intron variant G/A snv 7.2E-02 9.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2016 2016
dbSNP: rs61918808
rs61918808
0.925 0.080 12 48091747 intron variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 < 0.001 1 2019 2019
dbSNP: rs61918808
rs61918808
0.925 0.080 12 48091747 intron variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2019 2019
dbSNP: rs7963934
rs7963934
1.000 0.080 12 48083303 intron variant C/G snv 0.22
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness
0.010 1.000 1 2014 2014